Research map: Diagnostic delay, SERPING1 allelic heterogeneity, and real-world lanadelumab prophylaxis in Chinese patients with hereditary angioedema due to C1 inhibitor deficiency

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  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
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  13. Effect of Lanadelumab Compared With Placebo on Prevention of Hereditary Angioedema Attacks · Aleena Banerji · 2018 · 310 citations · Cited by this paper
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  15. Hereditary angio-oedema in Denmark: a nationwide survey · Anette Bygum · 2009 · 256 citations · Cited by this paper
  16. The influence of trigger factors on hereditary angioedema due to C1-inhibitor deficiency · Zsuzsanna Zotter · 2014 · 179 citations · Cited by this paper
  17. Inhibiting Plasma Kallikrein for Hereditary Angioedema Prophylaxis · Aleena Banerji · 2017 · 175 citations · Cited by this paper
  18. Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies · Emel Aygören‐Pürsün · 2018 · 172 citations · Cited by this paper
  19. Hereditary angioedema with C1 inhibitor deficiency: delay in diagnosis in Europe · Andrea Zanichelli · 2013 · 153 citations · Cited by this paper
  20. Hereditary angioedema: Epidemiology and burden of disease · William R. Lumry · 2020 · 146 citations · Cited by this paper
  21. A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy · Andrea Zanichelli · 2015 · 142 citations · Cited by this paper
  22. Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation · Konrad Bork · 2021 · 129 citations · Cited by this paper
  23. SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes · D. Ponard · 2019 · 121 citations · Cited by this paper
  24. An evaluation of tests used for the diagnosis and monitoring of C1 inhibitor deficiency: normal serum C4 does not exclude hereditary angio-oedema · Michael D. Tarzi · 2007 · 119 citations · Cited by this paper
  25. The Genetics of Hereditary Angioedema: A Review · Rosa Santacroce · 2021 · 119 citations · Cited by this paper
  26. Long‐term prevention of hereditary angioedema attacks with lanadelumab: The HELP OLE Study · Aleena Banerji · 2021 · 108 citations · Cited by this paper
  27. Hereditary angioedema with C1 inhibitor deficiency: clinical presentation and quality of life of 193 French patients · Laurence Bouillet · 2013 · 103 citations · Cited by this paper
  28. SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE · Christian Drouet · 2022 · 70 citations · Cited by this paper
  29. Clinical features of hereditary angioedema in Chinese patients: New findings and differences from other populations · Yingyang Xu · 2013 · 48 citations · Cited by this paper
  30. Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency · Vincent Denis · 2024 · 44 citations · Cited by this paper
  31. Epidemiology, Management, and Treatment Access of Hereditary Angioedema in the Asia Pacific Region: Outcomes From an International Survey · Philip Hei Li · 2022 · 39 citations · Cited by this paper
  32. A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency · Sofia Vatsiou · 2020 · 35 citations · Cited by this paper
  33. Complement factor C4 activation in patients with hereditary angioedema · Anne Aabom · 2017 · 33 citations · Cited by this paper
  34. The Mortality from Hereditary Angioedema Worldwide: a Review of the Real-World Data Literature · Fernanda Gontijo Minafra · 2025 · 31 citations · Cited by this paper
  35. Psychosocial burden of type 1 and 2 hereditary angioedema: a single-center Canadian cohort study · Julia Hews‐Girard · 2021 · 29 citations · Cited by this paper
  36. Real-World Effectiveness of Lanadelumab in Hereditary Angioedema: Multicountry INTEGRATED Observational Study · Markus A.K. Magerl · 2024 · 25 citations · Cited by this paper
  37. Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine · Anastasios E. Germenis · 2021 · 20 citations · Cited by this paper
  38. Mutation update of SERPING1 related to hereditary angioedema in the Chinese population · Xue Lian Wang · 2022 · 18 citations · Cited by this paper
  39. Acquired Angioedema Due to C1-Inhibitor Deficiency (AAE-C1-INH)—A Bicenter Retrospective Study on Diagnosis, Course, and Therapy · Susanne Trainotti · 2023 · 16 citations · Cited by this paper

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